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首页> 外文期刊>Genetic Testing >Genetic Analysis Carried Out on Blood-Spots of Phenylalanine Hydroxylase-Deficient Newborns Detected by Northeastern Italian Neonatal Screening
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Genetic Analysis Carried Out on Blood-Spots of Phenylalanine Hydroxylase-Deficient Newborns Detected by Northeastern Italian Neonatal Screening

机译：意大利东北新生儿筛查发现苯丙氨酸羟化酶缺陷型新生儿血点的遗传分析

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摘要

The aim of this work was to perform genetic analysis on 18 different blood-spot samples collected from neonates detected as hyperphenylalaninemic by Northeastern Italian screening program. DNA was extracted from blood-spots. Exons/introns of PAH gene were amplified by polymerase chain reaction (PCR), and PCR products were purified and sequenced with both forward and reverse primers. The most frequent mutations were IVS12nt1g > a (16.7%) and R408W, P281L and L48S (all together 11.1%). As expected, compound heterozy-gosity was the usual finding; homozygosity was found only in two patients with R158Q and IVS2nt5g > c mutations. The V230I mutation was reported for the first time in Italy. We found six previously described polymorphisms (V245V, IVS4nt47c > t, IVS2nt19t > c, IVS3nt-22c > t, IVS5nt-54a > g, and E280 > Q280). To our knowledge, four genotypes were not previously described: R158Q/V230I present in one patient with classical PKU; and L48S/R408Q, A403V/IVS2nt-13t > g, and G272X/V230I present in patients showing HPA pheno-type. Most of the mutations were located in the exons 12 and 7 and in exon/intron 2 (83.3% detection of total mutations in PKU or HPA patients of Northeastern Italy). From a practical viewpoint, the genetic analysis of blood-spots collected on Guthrie cards for neonatal screening for PKU could be a simple method to establish the genotype of neonates. Consequently, the genotype/phenotype correlation could lead to a more accurate diagnosis and prognosis for families.
机译：这项工作的目的是对通过意大利东北部筛查程序检测为高苯丙氨酸血症的新生儿采集的18种不同血样进行遗传分析。从血斑中提取DNA。通过聚合酶链反应（PCR）扩增PAH基因的外显子/内含子，并纯化PCR产物并用正向和反向引物测序。最常见的突变是IVS12nt1g> a（占16.7％）以及R408W，P281L和L48S（加在一起占11.1％）。不出所料，复合杂合性是通常的发现。仅在两名R158Q和IVS2nt5g> c突变的患者中发现纯合子。在意大利首次报道了V230I突变。我们发现了六个先前描述的多态性（V245V，IVS4nt47c> t，IVS2nt19t> c，IVS3nt-22c> t，IVS5nt-54a> g和E280> Q280）。据我们所知，以前没有描述过四种基因型：R158Q / V230I存在于一名经典PKU患者中；在显示HPA表型的患者中存在L48S / R408Q，A403V / IVS2nt-13t> g和G272X / V230I。大多数突变位于第12外显子和第7外显子以及第2外显子/内含子中（在意大利东北部的PKU或HPA患者中检测到总突变的83.3％）。从实践的角度来看，对在Guthrie卡上收集的血点进行遗传分析以进行新生儿PKU筛查可能是建立新生儿基因型的简单方法。因此，基因型/表型的相关性可以导致家庭的更准确的诊断和预后。

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